UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
1782221
ClinVar RCV Id:
RCV002408176
dbSNP Id:
rs1273724272
gnomAD v3:
7-117592066-C-T
gnomAD v4:
7-117592066-C-T
COSMIC:
COSM3922552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592066C>T , CM000669.2:g.117592066C>T | GRCh38 |
| NC_000007.13:g.117232120C>T , CM000669.1:g.117232120C>T | GRCh37 |
| NC_000007.12:g.117019356C>T | NCBI36 |
| NG_016465.4:g.131283C>T , LRG_663:g.131283C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.1899C>T | ENSP00000497673.2:p.Leu633= | |
| ENST00000647978.2:c.*1613C>T | ENSP00000497658.1:n.*1613C>T | |
| ENST00000649781.2:c.1716C>T | ENSP00000497203.1:p.Leu572= | |
| ENST00000685018.2:c.1899C>T | ENSP00000510194.2:p.Leu633= | |
| ENST00000687278.2:c.1899C>T | ENSP00000509593.2:p.Leu633= | |
| ENST00000699585.1:c.1899C>T | ENSP00000514456.1:p.Leu633= | |
| ENST00000699598.1:c.1899C>T | ENSP00000514467.1:p.Leu633= | |
| ENST00000699599.1:c.1899C>T | ENSP00000514468.1:p.Leu633= | |
| ENST00000699600.1:c.1899C>T | ENSP00000514469.1:p.Leu633= | |
| ENST00000699601.1:c.*199C>T | ENSP00000514470.1:n.*199C>T | |
| ENST00000699602.1:c.1899C>T | ENSP00000514471.1:p.Leu633= | |
| ENST00000699604.1:c.*1723C>T | ENSP00000514472.1:n.*1723C>T | |
| ENST00000699605.1:c.1473C>T | ENSP00000514473.1:p.Leu491= | |
| ENST00000003084.11:c.1899C>T MANE Select | ENSP00000003084.6:p.Leu633= | |
| ENST00000647978.1:c.*1613C>T | ENSP00000497658.1:n.*1613C>T | |
| ENST00000648260.1:c.1402-10760C>T | ENSP00000497957.1:n.1402-10760C>T | |
| ENST00000649406.1:c.1716C>T | ENSP00000497965.1:p.Leu572= | |
| ENST00000649781.1:c.1716C>T | ENSP00000497203.1:p.Leu572= | |
| ENST00000003084.10:c.1899C>T | ENSP00000003084.6:p.Leu633= | |
| ENST00000426809.5:c.1809C>T | ENSP00000389119.1:p.Leu603= | |
| NM_000492.3:c.1899C>T , LRG_663t1:c.1899C>T | NP_000483.3:p.Leu633= | |
| XM_011515751.1:c.1989C>T | XP_011514053.1:p.Leu663= | |
| XM_011515752.1:c.1989C>T | XP_011514054.1:p.Leu663= | |
| XM_011515753.1:c.1656C>T | XP_011514055.1:p.Leu552= | |
| XM_011515754.1:c.1656C>T | XP_011514056.1:p.Leu552= | |
| NM_000492.4:c.1899C>T MANE Select | NP_000483.3:p.Leu633= |